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Table 2 Other major extracutaneous complications of epidermolysis bullosa

From: Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

Tissue/organ/system Major complications EB type/subtype*
Gastrointestinal tract Pyloric atresia JEB-PA, EBS-PA
Esophageal stenosis/strictures/web formation RDEB-SG, RDEB-I, KS, RDEB-O
Chronic constipation/fecal impaction RDEB-SG, RDEB-I, RDEB-O, DDEB, JEB-H, JEB-nH, EBS-DM, EBS-MD
Gastroesophageal reflux disease RDEB, JEB-nH, EBS-DM, EBS-MD, JEB-PA, JEB-H, DDEB
Anal fissures/stenosis RDEB-SG, RDEB-I, RBED-O, KS
Protein-loosing enteropathy JEB-PA, EBS-PA, JEB-H, JEB-nH
Colitis/diarrhea KS, RDEB, JEB-PA
Genitourinary tract Urethral strictures, meatal stenosis JEB-H, RDEB-SG, JEB-PA, JEB-nH, LOC, KS
Genitourinary malformations, ureteral/ureterovesical junction obstruction/stenosis, recurrent cystitis JEB-PA, EBS-PA
Vulvar/vaginal scarring/strictures RDEB-I, KS
Renal failure RDEB-SG, JEB-PA, JEB-nH
Upper respiratory tract Tracheolaryngeal stenosis/acute respiratory failure JEB-H, LOC, EBS-MD, lethal acantholytic EB, EBS-DM
Musculoskeletal system Osteopenia and osteoporosis RDEB-SG, RDEB-O, JEB-nH
Limb flexion contractures RDEB-SG
Digit contractures/pseudosyndactyly RDEB-SG, RDEB-O, RDEB-I, KS
Mitten deformities RDEB-SG
Muscular dystrophy EBS-MD, EBS-PA
Hematopoietic system Multifactorial anemia RDEB-SG, JEB-H, JEB-PA, EBS-PA, JEB-nH, EBS-AR, EBS-DM, RDEB-O
Heart Dilated cardiomyopathy RDEB-SG, JEB-nH, EBS-MD
Endocrine Delayed puberty, amenorrhea RDEB-SG, RDEB-O
Systemic complications Sepsis JEB-H, JEB-nH, RDEB-SG, EBS-DM
Failure to thrive, growth retardation JEB-H, JEB-PA, EBS-PA, RDEB-SG, JEB-nH, RDEB-O, EBS-AR, EBS-DM, RDEB-I
  1. *The EB types and subtypes which present a higher frequency of a given complication are listed first.
  2. EBS, epidermolysis bullosa simplex; EBS-PA, EBS with pyloric atresia; EBS-DM, EBS, Dowling-Meara; EBS-MD, EBS with muscular dystrophy; EBS-AR, EBS, autosomal recessive; EBS-PD, plakophilin deficiency; EBS-O, EBS, generalized other; JEB, junctional epidermolysis bullosa; JEB-H, JEB, Herlitz; JEB-nH, JEB, non-Herlitz; JEB-PA, JEB with pyloric atresia; LOC, laryngo-onycho-cutaneous syndrome; DEB, dystrophic epidermolysis bullosa; DDEB, dominant DEB; DDEB-G, DDEB, generalized; RDEB,recessive DEB; RDEB-SG, recessive DEB, severe generalized; RDEB-O, recessive DEB, generalized other; RDEB-I, recessive DEB, inversa; DEB-Pr, DEB, pruriginosa; DEB-Pt, pretibial DEB; KS, Kindler syndrome.